Canonical Allele Identifier: CA375313622

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396748C>A (hg19) ; chr9:g.131521361C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521361C>A , CM000671.2:g.131521361C>A	GRCh38
NC_000009.11:g.134396748C>A , CM000671.1:g.134396748C>A	GRCh37
NC_000009.10:g.133386569C>A	NCBI36
NG_008896.1:g.23460C>A
NG_008896.2:g.23460C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1552C>A	ENSP00000343034.7:p.Leu518Ile
ENST00000404875.7:n.2254C>A
ENST00000423007.6:c.1771C>A	ENSP00000404119.2:p.Leu591Ile
ENST00000677295.2:c.*2058C>A	ENSP00000504346.2:n.*2058C>A
ENST00000678264.2:c.*1897C>A	ENSP00000503157.2:n.*1897C>A
ENST00000682070.1:n.2179C>A
ENST00000682813.1:n.2118C>A
ENST00000683392.1:n.4461C>A
ENST00000683712.1:n.2119C>A
ENST00000683900.1:n.3614C>A
ENST00000684062.1:n.2380C>A
ENST00000684579.1:n.3560C>A
ENST00000684679.1:n.941C>A
ENST00000341012.12:c.1552C>A	ENSP00000343034.7:p.Leu518Ile
ENST00000372220.5:c.583C>A	ENSP00000361294.5:p.Leu195Ile
ENST00000372228.9:c.1780C>A	ENSP00000361302.3:p.Leu594Ile
ENST00000402686.8:c.1714C>A MANE Select	ENSP00000385797.4:p.Leu572Ile
ENST00000676640.1:c.1714C>A	ENSP00000503281.1:p.Leu572Ile
ENST00000676803.1:c.775C>A	ENSP00000503093.1:p.Leu259Ile
ENST00000676835.1:c.*929C>A	ENSP00000502911.1:n.*929C>A
ENST00000677029.1:c.1258C>A	ENSP00000502936.1:p.Leu420Ile
ENST00000677099.1:c.*1424C>A	ENSP00000504553.1:n.*1424C>A
ENST00000677216.1:c.1363C>A	ENSP00000503772.1:p.Leu455Ile
ENST00000677221.1:n.739C>A
ENST00000677295.1:c.*1091C>A	ENSP00000504346.1:n.*1091C>A
ENST00000677444.1:c.1659C>A
ENST00000677586.1:n.1081C>A
ENST00000677626.1:c.1363C>A	ENSP00000503552.1:p.Leu455Ile
ENST00000677853.1:c.*722C>A	ENSP00000503488.1:n.*722C>A
ENST00000678202.1:n.873C>A
ENST00000678264.1:c.*1091C>A	ENSP00000503157.1:n.*1091C>A
ENST00000678303.1:c.1624C>A	ENSP00000503696.1:p.Leu542Ile
ENST00000678366.1:c.*1963C>A	ENSP00000504353.1:n.*1963C>A
ENST00000678546.1:c.*1659C>A	ENSP00000503062.1:n.*1659C>A
ENST00000678548.1:c.*1786C>A	ENSP00000503934.1:n.*1786C>A
ENST00000678626.1:n.1550C>A
ENST00000678739.1:c.*2035C>A	ENSP00000503806.1:n.*2035C>A
ENST00000678833.1:c.*1466C>A	ENSP00000503893.1:n.*1466C>A
ENST00000679023.1:c.1552C>A	ENSP00000503718.1:p.Leu518Ile
ENST00000679076.1:c.1333C>A
ENST00000679111.1:c.*470C>A	ENSP00000504257.1:n.*470C>A
ENST00000679189.1:c.1363C>A	ENSP00000503356.1:p.Leu455Ile
ENST00000341012.11:c.1552C>A	ENSP00000343034.7:p.Leu518Ile
ENST00000372220.4:c.577C>A	ENSP00000361294.4:p.Leu193Ile
ENST00000372228.7:c.1780C>A	ENSP00000361302.3:p.Leu594Ile
ENST00000402686.7:c.1714C>A	ENSP00000385797.3:p.Leu572Ile
ENST00000404875.6:c.1363C>A	ENSP00000384531.2:p.Leu455Ile
ENST00000423007.5:c.1714C>A	ENSP00000404119.1:p.Leu572Ile
ENST00000467848.1:n.418C>A
ENST00000485278.5:n.2264C>A
ENST00000494883.1:n.257C>A
NM_001077365.1:c.1714C>A	NP_001070833.1:p.Leu572Ile
NM_001077366.1:c.1552C>A	NP_001070834.1:p.Leu518Ile
NM_001136113.1:c.1714C>A	NP_001129585.1:p.Leu572Ile
NM_001136114.1:c.1363C>A	NP_001129586.1:p.Leu455Ile
NM_007171.3:c.1780C>A	NP_009102.3:p.Leu594Ile
XM_005272156.1:c.1780C>A	XP_005272213.1:p.Leu594Ile
XM_005272158.1:c.1618C>A	XP_005272215.1:p.Leu540Ile
XM_005272159.1:c.1429C>A	XP_005272216.1:p.Leu477Ile
XM_005272162.1:c.583C>A	XP_005272219.1:p.Leu195Ile
XM_006716932.1:c.1429C>A	XP_006716995.1:p.Leu477Ile
XM_011518140.1:c.1633C>A	XP_011516442.1:p.Leu545Ile
XM_011518141.1:c.1567C>A	XP_011516443.1:p.Leu523Ile
XM_011518142.1:c.1471C>A	XP_011516444.1:p.Leu491Ile
XM_011518143.1:c.1465C>A	XP_011516445.1:p.Leu489Ile
XM_011518145.1:c.1324C>A	XP_011516447.1:p.Leu442Ile
XM_011518147.1:c.652C>A	XP_011516449.1:p.Leu218Ile
XR_929703.1:n.1956C>A
NM_001353193.1:c.1780C>A	NP_001340122.1:p.Leu594Ile
NM_001353194.1:c.1552C>A	NP_001340123.1:p.Leu518Ile
NM_001353195.1:c.1363C>A	NP_001340124.1:p.Leu455Ile
NM_001353196.1:c.1624C>A	NP_001340125.1:p.Leu542Ile
NM_001353197.1:c.1618C>A	NP_001340126.1:p.Leu540Ile
NM_001353198.1:c.1618C>A	NP_001340127.1:p.Leu540Ile
NM_001353199.1:c.1429C>A	NP_001340128.1:p.Leu477Ile
NM_001353200.1:c.1258C>A	NP_001340129.1:p.Leu420Ile
NR_148391.1:n.1764C>A
NR_148392.1:n.1982C>A
NR_148393.1:n.1903C>A
NR_148394.1:n.1657C>A
NR_148395.1:n.2055C>A
NR_148396.1:n.1689C>A
NR_148397.1:n.1814C>A
NR_148398.1:n.1769C>A
NR_148399.1:n.2295C>A
NR_148400.1:n.1894C>A
XM_005272162.3:c.583C>A	XP_005272219.1:p.Leu195Ile
XM_006716932.2:c.1429C>A	XP_006716995.1:p.Leu477Ile
XM_011518140.2:c.1633C>A	XP_011516442.1:p.Leu545Ile
XM_011518141.2:c.1567C>A	XP_011516443.1:p.Leu523Ile
XM_011518142.2:c.1471C>A	XP_011516444.1:p.Leu491Ile
XM_011518143.2:c.1465C>A	XP_011516445.1:p.Leu489Ile
XM_011518145.2:c.1324C>A	XP_011516447.1:p.Leu442Ile
XM_017014205.2:c.583C>A	XP_016869694.1:p.Leu195Ile
XM_024447380.1:c.583C>A	XP_024303148.1:p.Leu195Ile
XM_024447381.1:c.889C>A	XP_024303149.1:p.Leu297Ile
XM_024447382.1:c.583C>A	XP_024303150.1:p.Leu195Ile
XR_001746160.2:n.1884C>A
XR_001746162.2:n.2089C>A
XR_001746164.1:n.1806C>A
XR_001746166.2:n.2101C>A
NM_001077365.2:c.1714C>A MANE Select	NP_001070833.1:p.Leu572Ile
NM_001077366.2:c.1552C>A	NP_001070834.1:p.Leu518Ile
NM_001136113.2:c.1714C>A	NP_001129585.1:p.Leu572Ile
NM_001136114.2:c.1363C>A	NP_001129586.1:p.Leu455Ile
NM_001353193.2:c.1780C>A	NP_001340122.2:p.Leu594Ile
NM_001353194.2:c.1552C>A	NP_001340123.1:p.Leu518Ile
NM_001353195.2:c.1363C>A	NP_001340124.1:p.Leu455Ile
NM_001353196.2:c.1624C>A	NP_001340125.1:p.Leu542Ile
NM_001353197.2:c.1618C>A	NP_001340126.2:p.Leu540Ile
NM_001353198.2:c.1618C>A	NP_001340127.2:p.Leu540Ile
NM_001353199.2:c.1429C>A	NP_001340128.2:p.Leu477Ile
NM_001353200.2:c.1258C>A	NP_001340129.1:p.Leu420Ile
NM_001374689.1:c.1702C>A	NP_001361618.1:p.Leu568Ile
NM_001374690.1:c.1495C>A	NP_001361619.1:p.Leu499Ile
NM_001374691.1:c.1363C>A	NP_001361620.1:p.Leu455Ile
NM_001374692.1:c.1363C>A	NP_001361621.1:p.Leu455Ile
NM_001374693.1:c.1363C>A	NP_001361622.1:p.Leu455Ile
NM_001374695.1:c.1324C>A	NP_001361624.1:p.Leu442Ile
NM_007171.4:c.1780C>A	NP_009102.4:p.Leu594Ile
NR_148391.2:n.1748C>A
NR_148392.2:n.1966C>A
NR_148393.2:n.1887C>A
NR_148394.2:n.1641C>A
NR_148395.2:n.2039C>A
NR_148396.2:n.1673C>A
NR_148397.2:n.1798C>A
NR_148398.2:n.1753C>A
NR_148399.2:n.2279C>A
NR_148400.2:n.1878C>A